The major mutation in the RMRP gene causing CHH among the Amish is the same as that found in most Finnish cases

American Journal of Medical Genetics - Seminars in Medical Genetics

Volumn 121 C, Issue 1, 2003, Pages 81-83

  Ridanpää, Maaret ^b   Jain, Pawan ^c   McKusick, Victor A ^a   Francomano, Clair A ^c   Kaitila, Ilkka ^c  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^c NONE

Author keywords

70A G; Ancient mutation; Cartilage hair hypoplasia; RNase MRP

Indexed keywords

MITOCHONDRIAL RNA; NUCLEOTIDE; RIBONUCLEASE;

AMINO ACID SUBSTITUTION; ARTICLE; CARTILAGE HAIR HYPOPLASIA; CARTILAGE HYPOPLASIA; CHONDRODYSPLASIA; CLINICAL ARTICLE; COMPARATIVE STUDY; CONTROLLED STUDY; DNA SEQUENCE; ELLIS VAN CREVELD SYNDROME; ETHNIC GROUP; FINLAND; GENE; GENE FREQUENCY; GENE MUTATION; GENETIC CODE; GENETICS; HAIR DISEASE; HAPLOTYPE; HETEROZYGOTE; HUMAN; IMMIGRANT; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; POINT MUTATION; POPULATION RESEARCH; PRIORITY JOURNAL; PROMOTER REGION; RELIGION; RMRP GENE; RNA PROCESSING; RNA TRANSLATION; SINGLE STRAND CONFORMATION POLYMORPHISM; UNITED STATES;

EID: 0042319208     PISSN: 15524868     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.c.20006     Document Type: Article

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